ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.6976G>A (p.Asp2326Asn)

dbSNP: rs768054802
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000806779 SCV000946796 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-12-07 criteria provided, single submitter clinical testing
GeneDx RCV001759544 SCV002006636 uncertain significance not provided 2019-03-29 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002501086 SCV002782186 uncertain significance Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2021-12-03 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.